Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060499626
ZMYND11
0.882 0.160 10 180034 stop gained C/T snv 6
rs1135402760
BRSK2
0.851 0.160 11 1451405 frameshift variant AG/- delins 6
rs1554297905
RALA
0.882 0.160 7 39686740 missense variant G/A snv 6
rs797045140
IQSEC2
0.827 0.200 X 53238308 splice region variant TG/- delins 6
rs878853165
HOOK2 ; MAST1
0.882 0.200 19 12843558 missense variant C/T snv 6
rs879253745
ARID1B
0.925 0.240 6 157181040 frameshift variant AA/- delins 6
rs879253746
ARID1B
0.925 0.240 6 157200866 frameshift variant -/T delins 6
rs879253747
ARID1B
0.925 0.240 6 157167101 stop gained C/T snv 6
rs879253856
ARID1B
0.925 0.240 6 157110496 frameshift variant CCG/TCCGCAGCCACTCC delins 6
rs886039903
FGF12
0.807 0.200 3 192335434 missense variant C/T snv 6
rs1553546045
PTH2R
0.925 0.200 2 208442425 missense variant C/T snv 5
rs1569146993
TCF20
0.851 0.320 22 42211700 frameshift variant -/C delins 5
rs869312663
SCN2A
0.882 0.200 2 165381114 missense variant A/G snv 5
rs869312671
MTOR ; MTOR-AS1
0.882 0.160 1 11144735 missense variant C/T snv 5
rs869312689
ZBTB18
0.925 0.160 1 244053934 missense variant T/C snv 5
rs869312696
ASXL3
0.882 0.160 18 33739086 stop gained C/A snv 5
rs869312698
MEF2C
0.925 0.160 5 88804785 missense variant C/T snv 5
rs1057519561
SNX14
0.882 0.200 6 85533701 frameshift variant -/AAAAAAAAAAA delins 7.0E-06 4
rs1085307451
DHX30 ; MIR1226
0.925 0.160 3 47848246 missense variant C/T snv 4
rs1553654413
ITPR1
0.925 0.240 3 4627877 splice region variant CGTA/- delins 4
rs1554904772
BRSK2
0.882 0.280 11 1443490 missense variant G/A snv 4
rs1555013332
SHANK2
0.882 0.160 11 70661635 frameshift variant -/T delins 4
rs1555447569
SCAPER
0.851 0.160 15 76471314 frameshift variant ATTG/- delins 4
rs794726710
SCN1A ; SCN1A-AS1 ; LOC102724058
0.882 0.160 2 166013812 stop gained G/A snv 4
rs869312664
SCN2A
0.925 0.160 2 165386920 stop gained G/A;T snv 4